Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057518916
rs1057518916
1 3 38606034 stop gained G/A snv 0.700 0
dbSNP: rs199473103
rs199473103
3 0.925 0.120 3 38606102 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs199473605
rs199473605
7 0.851 0.120 3 38560374 missense variant C/G;T snv 4.8E-05; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs566251672
rs566251672
2 1.000 0.120 3 38587437 missense variant C/A;T snv 4.0E-06; 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs7626962
rs7626962
10 0.790 0.080 3 38579416 missense variant G/A;T snv 1.6E-05; 5.9E-03 0.010 1.000 1 2002 2002